Mutations in the gene for the transcription factor hepatocyte nuclear factor (HNF) 1alpha cause maturity-onset diabetes of the young (MODY) 3, a form of diabetes that results from defects in insulin secretion. Since the nature of these defects has not been defined, we compared insulin secretory function in heterozygous [HNF-1alpha (+/-)] or homozygous [HNF-1alpha (-/-)] mice with null mutations in the HNF-1alpha gene with their wild-type littermates [HNF-1alpha (+/+)]. Blood glucose concentrations were similar in HNF-1alpha (+/+) and (+/-) mice (7.8+/-0.2 and 7.9+/-0.3 mM), but were significantly higher in the HNF-1alpha (-/-) mice (13.1+/-0.7 mM, P < 0.001). Insulin secretory responses to glucose and arginine in the perfused pancreas and perifused islets from HNF-1alpha (-/-) mice were < 15% of the values in the other two groups and were associated with similar reductions in intracellular Ca2+ responses. These defects were not due to a decrease in glucokinase or insulin gene transcription. beta cell mass adjusted for body weight was not reduced in the (-/-) animals, although pancreatic insulin content adjusted for pancreas weight was slightly lower (0.06+/-0.01 vs. 0.10+/-0.01 microg/mg, P < 0.01) than in the (+/+) animals. In summary, a null mutation in the HNF-1alpha gene in homozygous mice leads to diabetes due to alterations in the pathways that regulate beta cell responses to secretagogues including glucose and arginine. These results provide further evidence in support of a key role for HNF-1alpha in the maintenance of normal beta cell function.
M Pontoglio, S Sreenan, M Roe, W Pugh, D Ostrega, A Doyen, A J Pick, A Baldwin, G Velho, P Froguel, M Levisetti, S Bonner-Weir, G I Bell, M Yaniv, K S Polonsky
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The Journal of biological chemistry | 2009 |
Insulin Signaling in α Cells Modulates Glucagon Secretion In Vivo
D Kawamori, AJ Kurpad, J Hu, CW Liew, JL Shih, EL Ford, PL Herrera, KS Polonsky, OP McGuinness, RN Kulkarni |
Cell Metabolism | 2009 |
Role of HNF-1α in regulating the expression of genes involved in cellular growth and proliferation in pancreatic beta-cells
Y Uchizono, AC Baldwin, H Sakuma, W Pugh, KS Polonsky, M Hara |
Diabetes Research and Clinical Practice | 2009 |
Dominant-negative mutant hepatocyte nuclear factor 1α induces diabetes in transgenic-cloned pigs
K Umeyama, M Watanabe, H Saito, M Kurome, S Tohi, H Matsunari, K Miki, H Nagashima |
Transgenic Research | 2009 |
Genetic Diseases of the Kidney
K Ichida, M Hosoyamada, T Hosoya, H Endou |
Genetic Diseases of the Kidney | 2009 |
Functional Targets of the Monogenic Diabetes Transcription Factors HNF-1 and HNF-4 Are Highly Conserved Between Mice and Humans
SF Boj, JM Servitja, D Martin, M Rios, I Talianidis, R Guigo, J Ferrer |
Diabetes | 2009 |
Mitochondrial Dysfunction Contributes to Impaired Insulin Secretion in INS-1 Cells with Dominant-negative Mutations of HNF-1α and in HNF-1α-deficient Islets
RL Pongratz, RG Kibbey, CL Kirkpatrick, X Zhao, M Pontoglio, M Yaniv, CB Wollheim, GI Shulman, GW Cline |
The Journal of biological chemistry | 2009 |
Increased Insulin Sensitivity in Mice Lacking Collectrin, a Downstream Target of HNF-1α
SM Malakauskas, WM Kourany, XY Zhang, D Lu, RD Stevens, TR Koves, HE Hohmeier, DM Muoio, CB Newgard, TH Le |
Molecular Endocrinology | 2009 |
Diabetes in Women
A Tsatsoulis, J Wyckoff, FM Brown |
2009 | |
Stem Cell Therapy for Diabetes
S Efrat |
2009 | |
The nuclear receptor coactivator AIB3 is a modulator of HOMA beta-cell function in nondiabetic children
H Burghardt, A López-Bermejo, B Baumgartner, L Ibáñez, J Vendrell, W Ricart, M Palacín, JM Fernández-Real, A Zorzano |
Clinical Endocrinology | 2008 |
Thioredoxin-interacting protein deficiency induces Akt/Bcl-xL signaling and pancreatic beta-cell mass and protects against diabetes
J Chen, ST Hui, FM Couto, IN Mungrue, DB Davis, AD Attie, AJ Lusis, RA Davis, A Shalev |
The FASEB Journal | 2008 |
Mechanisms of Disease: using genetically altered mice to study concepts of type 2 diabetes
D Leroith, D Accili |
Nature Clinical Practice Endocrinology & Metabolism | 2008 |
Monogenic Diabetes in the Young, Pharmacogenetics and Relevance to Multifactorial Forms of Type 2 Diabetes
M Vaxillaire, P Froguel |
Endocrine reviews | 2008 |
Early loss of mammalian target of rapamycin complex 1 (mTORC1) signalling and reduction in cell size during dominant-negative suppression of hepatic nuclear factor 1-α (HNF1A) function in INS-1 insulinoma cells
AM Farrelly, H Wobser, C Bonner, S Anguissola, M Rehm, CG Concannon, JH Prehn, MM Byrne |
Diabetologia | 2008 |
Tissue-specific transcription factors in progression of epithelial tumors
NL Lazarevich, DI Fleishman |
Biochemistry (Moscow) | 2008 |
Function of HNF1 in the pathogenesis of diabetes
DB Rhoads, LL Levitsky |
Expert Review of Endocrinology & Metabolism | 2008 |
Expression of HNF-4α (MODY1), HNF-1β (MODY5), and HNF-1α (MODY3) proteins in the developing mouse pancreas
T Nammo, K Yamagata, T Tanaka, T Kodama, FM Sladek, K Fukui, F Katsube, Y Sato, J Miyagawa, I Shimomura |
Gene Expression Patterns | 2008 |
Role of HNF-1α and HNF-1β on insulin, IGF-1 and other potential target genes
S Kitanaka |
Expert Review of Endocrinology & Metabolism | 2008 |
Epidemiology of Pediatric and Adolescent Diabetes
M Vaxillaire, P Froguel |
Epidemiology of Pediatric and Adolescent Diabetes | 2008 |
Type 2 Diabetes Mellitus
MN Feinglos, MA Bethel |
2008 | |
Pancreatic Development and Disease
DA Cano, M Hebrok, M Zenker |
Gastroenterology | 2007 |
Pancreatic Beta-cell Apoptosis in Maturity Onset Diabetes of the Young
JD Johnson |
Canadian Journal of Diabetes | 2007 |
Collectrin, a homologue of ACE2, its transcriptional control and functional perspectives
Y Zhang, J Wada |
Biochemical and Biophysical Research Communications | 2007 |
Type 2 Diabetes: Principles and Practice, Second Edition
L Adams |
Type 2 Diabetes: Principles and Practice, Second Edition | 2007 |
The Production of a Diabetic Mouse Using Constructs Encoding Porcine Insulin Promoter-Driven Mutant Human Hepatocyte Nuclear Factor-1α
M WATANABE, K UMEYAMA, H KAWANO, N IZUNO, H NAGASHIMA, K MIKI |
Journal of Reproduction and Development | 2007 |
Regulation of Tissue-Specific Expression of the Human and Mouse Urate Transporter 1 Gene by Hepatocyte Nuclear Factor 1 α/β and DNA Methylation
R Kikuchi, H Kusuhara, N Hattori, I Kim, K Shiota, FJ Gonzalez, Y Sugiyama |
Molecular pharmacology | 2007 |
Structural Basis of Disease-Causing Mutations in Hepatocyte Nuclear Factor 1β ,
P Lu, GB Rha, YI Chi |
Biochemistry | 2007 |
A Conditional Model Reveals That Induction of Hepatocyte Nuclear Factor-1 in Hnf1 -Null Mutant -Cells Can Activate Silenced Genes Postnatally, Whereas Overexpression Is Deleterious
RF Luco, MA Maestro, N Pozo, WM Philbrick, PP de la Ossa, J Ferrer |
Diabetes | 2006 |
Maintenance of Hepatic Nuclear Factor 6 in Postnatal Islets Impairs Terminal Differentiation and Function of -Cells
E Tweedie, I Artner, L Crawford, G Poffenberger, B Thorens, R Stein, AC Powers, M Gannon |
Diabetes | 2006 |
Common variants in HNF-1 α and risk of type 2 diabetes
J Holmkvist, C Cervin, V Lyssenko, W Winckler, D Anevski, C Cilio, P Almgren, G Berglund, P Nilsson, T Tuomi, CM Lindgren, D Altshuler, L Groop |
Diabetologia | 2006 |
Downregulation of protein kinase B/Akt-1 mediates INS-1 insulinoma cell apoptosis induced by dominant-negative suppression of hepatocyte nuclear factor-1alpha function
H Wobser, C Bonner, JJ Nolan, MM Byrne, JH Prehn |
Diabetologia | 2006 |
Animal models of type 2 diabetes with reduced pancreatic β-cell mass
P Masiello |
The International Journal of Biochemistry & Cell Biology | 2006 |
Alternate mRNA processing of the hepatocyte nuclear factor genes and its role in monogenic diabetes
LW Harries |
Expert Review of Endocrinology & Metabolism | 2006 |
Genetic Basis of Maturity-Onset Diabetes of the Young
M Vaxillaire, P Froguel |
Endocrinology and metabolism clinics of North America | 2006 |
Diabètes de type MODY
J Timsit, C Bellanné-Chantelot, G Velho |
EMC - Endocrinologie - Nutrition | 2006 |
Specifying pancreatic endocrine cell fates
P Collombat, J Hecksher-Sørensen, P Serup, A Mansouri |
Mechanisms of Development | 2006 |
The MODY gene HNF-4 alpha regulates selected genes involved in insulin secretion
Rana K. Gupta, Marko Z. Vatamaniuk, Catherine S. Lee, Reed C. Flaschen, James T. Fulmer, Franz M. Matschinsky, Stephen A. Duncan, Klaus H. Kaestner |
Journal of Clinical Investigation | 2005 |
Minireview: Transcriptional Regulation in Pancreatic Development
JF Habener, DM Kemp, MK Thomas |
Endocrinology | 2005 |
The MODY1 gene HNF-4α regulates selected genes involved in insulin secretion
RK Gupta, MZ Vatamaniuk, CS Lee, RC Flaschen, JT Fulmer, FM Matschinsky, SA Duncan, KH Kaestner |
Journal of Clinical Investigation | 2005 |
The HNF-1 target Collectrin controls insulin exocytosis by SNARE complex formation
K Fukui, Q Yang, Y Cao, N Takahashi, H Hatakeyama, H Wang, J Wada, Y Zhang, L Marselli, T Nammo, K Yoneda, M Onishi, S Higashiyama, Y Matsuzawa, FJ Gonzalez, GC Weir, H Kasai, I Shimomura, J Miyagawa, CB Wollheim, K Yamagata |
Cell Metabolism | 2005 |
Genetics of type 2 diabetes mellitus: status and perspectives
L Hansen, O Pedersen |
Diabetes, Obesity and Metabolism | 2005 |
Collecting new targets in MODY
KH Kaestner |
Cell Metabolism | 2005 |
Optical imaging of pancreatic beta cells in living mice expressing a mouse insulin I promoter-firefly luciferase transgene
SY Park, X Wang, Z Chen, AC Powers, MA Magnuson, WS Head, DW Piston, GI Bell |
genesis | 2005 |
Diagnosis and Management of Maturity-Onset Diabetes of the Young
J Timsit, C Bellann??-Chantelot, D Dubois-Laforgue, G Velho |
Treatments in Endocrinology | 2005 |
Genetic and clinical characteristics of maturity-onset diabetes of the young
FM Giuffrida, AF Reis |
Diabetes, Obesity and Metabolism | 2005 |
Preserved insulin response to tolbutamide in hepatocyte nuclear factor-1α mutation carriers
JV Sagen, ER Pearson, A Johansen, G Spyer, O Søvik, O Pedersen, PR Njølstad, AT Hattersley, T Hansen |
Diabetic Medicine | 2005 |
The mouse RNase 4 and RNase 5/ang 1 locus utilizes dual promoters for tissue-specific expression
KD Dyer, HF Rosenberg |
Nucleic Acids Research | 2005 |
Genes and Type 2 Diabetes Mellitus
MT Luna |
Archives of Medical Research | 2005 |
Diagnosis and Management of Maturity-Onset Diabetes of the Young:
J Timsit, C Bellann??-Chantelot, D Dubois-Laforgue, G Velho |
Treatments in Endocrinology | 2005 |
Insulin secretory defect and increased susceptibility to experimental diabetes by reduction in Akt activity in pancreatic islet β-cells
Ernesto Bernal-Mizrachi, Szabolcs Fatrai, James D. Johnson, Mitsuru Ohsugi, Kenichi Otani, Zhiqiang Han, Kenneth S. Polonsky, and M. Alan Permutt |
Journal of Clinical Investigation | 2004 |
Transcriptional networks controlling pancreatic development and beta cell function
JM Servitja, J Ferrer |
Diabetologia | 2004 |
Transcription Factors in Islet Development and Physiology: Role of PDX-1 in Beta-Cell Function
D Melloul |
Annals of the New York Academy of Sciences | 2004 |
The HNF1β transcription factor has several domains involved in nephrogenesis and partially rescues Pax8/lim1-induced kidney malformations
G Wu, S Bohn, GU Ryffel |
European Journal of Biochemistry | 2004 |
Hepatocyte nuclear factor 4alpha enhances the hepatocyte nuclear factor 1alpha-mediated activation of transcription
J Eeckhoute, P Formstecher, B Laine |
Nucleic Acids Research | 2004 |
Mouse models of insulin resistance and type 2 diabetes
C Postic, F Mauvais-Jarvis, J Girard |
Annales d'Endocrinologie | 2004 |
Effect of mutations in HNF-1α and HNF-1β on the transcriptional regulation of human sucrase–isomaltase in Caco-2 cells
N Gu, N Suzuki, J Takeda, T Adachi, G Tsujimoto, N Aoki, A Ishihara, K Tsuda, K Yasuda |
Biochemical and Biophysical Research Communications | 2004 |
Variation in NCB5OR: Studies of Relationships to Type 2 Diabetes, Maturity-Onset Diabetes of the Young, and Gestational Diabetes Mellitus
G Andersen, L Wegner, CS Rose, J Xie, H Zhu, K Larade, A Johansen, J Ek, J Lauenborg, T Drivsholm, K Borch-Johnsen, P Damm, T Hansen, HF Bunn, O Pedersen |
Diabetes | 2004 |
Beta-cell-targeted expression of a dominant-negative mutant of hepatocyte nuclear factor-1alpha in mice: diabetes model with beta-cell dysfunction partially rescued by nonglucose secretagogues
Maria Sörhede Winzell, Giovanni Pacini, Claes B Wollheim, Bo Ahrén |
Diabetes | 2004 |
Selective Deletion of the Hnf1β (MODY5) Gene in β-Cells Leads to Altered Gene Expression and Defective Insulin Release
L Wang, C Coffinier, MK Thomas, L Gresh, G Eddu, T Manor, LL Levitsky, M Yaniv, DB Rhoads |
Endocrinology | 2004 |
The G115S mutation associated with maturity-onset diabetes of the young impairs hepatocyte nuclear factor 4α activities and introduces a PKA phosphorylation site in its DNA-binding domain
B OXOMBRE, M KOUACH, E MOERMAN, P FORMSTECHER, B LAINE |
Biochemical Journal | 2004 |
Biochemical and Structural Basis for Partially Redundant Enzymatic and Transcriptional Functions of DCoH and DCoH2 ,
RB Rose, KE Pullen, JH Bayle, GR Crabtree, T Alber |
Biochemistry | 2004 |
Increased islet apoptosis in PDX-1+/- mice
James D. Johnson, Noreen T. Ahmed, Dan S. Luciani, Zhiqiang Han, Hung Tran, Jun Fujita, Stanley Misler, Helena Edlund, Kenneth S. Polonsky |
Journal of Clinical Investigation | 2003 |
Developmental aspects of the endocrine pancreas
Daniel M Kemp, Melissa K Thomas, Joel F Habener |
Reviews in Endocrine and Metabolic Disorders | 2003 |
International Textbook of Diabetes Mellitus
RA DeFronzo, L Mandarino, E Ferrannini |
International Textbook of Diabetes Mellitus | 2003 |
Transcription factor 1 and beta-cell function in glucose-tolerant subjects
KC Chiu, LM Chuang, A Chu, M Wang |
Diabetic Medicine | 2003 |
Regulation of Pancreatic β-cell Function by the HNF Transcription Network: Lessons from Maturity-Onset Diabetes of the Young (MODY)
K YAMAGATA |
Endocrine Journal | 2003 |
Genetic cause of hyperglycaemia and response to treatment in diabetes
ER Pearson, BJ Starkey, RJ Powell, FM Gribble, PM Clark, AT Hattersley |
The Lancet | 2003 |
Hepatocyte nuclear factor 1 negatively regulates amylin gene expression
J Green, D Naot, G Cooper |
Biochemical and Biophysical Research Communications | 2003 |
Gene expression cascades in pancreatic development
ME Wilson, D Scheel, MS German |
Mechanisms of Development | 2003 |
Regulation of apolipoprotein M gene expression by MODY3 gene hepatocyte nuclear factor-1alpha: haploinsufficiency is associated with reduced serum apolipoprotein M levels
Symi Richter, David Q Shih, Ewan R Pearson, Christian Wolfrum, Stefan S Fajans, Andrew T Hattersley, Markus Stoffel |
Diabetes | 2003 |
Brain death significantly reduces isolated pancreatic islet yields and functionality in vitro and in vivo after transplantation in rats
Juan L Contreras, Christopher Eckstein, Cheryl A Smyth, Marty T Sellers, Mario Vilatoba, Guadalupe Bilbao, Firoz G Rahemtulla, Carlton J Young, J Anthony Thompson, Irshad H Chaudry, Devin E Eckhoff |
Diabetes | 2003 |
Functions of HNF1 Family Members in Differentiation of the Visceral Endoderm Cell Lineage
C Haumaitre, M Reber, S Cereghini |
The Journal of biological chemistry | 2003 |
HNF-1α and endodermal transcription factors cooperatively activate Fabpl : MODY3 mutations abrogate cooperativity
JK Divine, SP McCaul, TC Simon |
AJP Gastrointestinal and Liver Physiology | 2003 |
Transcription factors in liver development, differentiation, and regeneration
RH Costa, VV Kalinichenko, AX Holterman, X Wang |
Hepatology | 2003 |
Grundlagen der Molekularen Medizin
D Ganten, K Ruckpaul |
2003 | |
Le MODY : modèle d’étude d’interactions génotype/phénotype dans le diabète de type 2
G Velho, C Bellanné-Chantelot, J Timsit |
médecine/sciences | 2003 |
Liver-Specific Reactivation of the Inactivated Hnf - 1 α Gene: Elimination of Liver Dysfunction To Establish a Mouse MODY3 Model
YH Lee, MA Magnuson, V Muppala, SS Chen |
Molecular and cellular biology | 2003 |
Defective insulin secretion in pancreatic beta cells lacking type 1 IGF receptor
Shouhong Xuan, Tadahiro Kitamura, Jun Nakae, Katerina Politi, Yoshiaki Kido, Peter E. Fisher, Manrico Morroni, Saverio Cinti, Morris F. White, Pedro L. Herrera, Domenico Accili and Argiris Efstratiadis |
Journal of Clinical Investigation | 2002 |
Overexpression of Dominant-Negative Mutant Hepatocyte Nuclear Factor-1 in Pancreatic -Cells Causes Abnormal Islet Architecture With Decreased Expression of E-Cadherin, Reduced -cell Proliferation, and Diabetes
K Yamagata, T Nammo, M Moriwaki, A Ihara, K Iizuka, Q Yang, T Satoh, M Li, R Uenaka, K Okita, H Iwahashi, Q Zhu, Y Cao, A Imagawa, Y Tochino, T Hanafusa, J Miyagawa, Y Matsuzawa |
Diabetes | 2002 |
Development and diseases of the pancreas
KA Johansson, A Grapin-Botton |
Clinical Genetics | 2002 |
Hepatocyte Nuclear Factor 1 α Controls Renal Expression of the Npt1-Npt4 Anionic Transporter Locus
C Cheret, A Doyen, M Yaniv, M Pontoglio |
Journal of Molecular Biology | 2002 |
Intracellular glycosylation and development
N O'Donnell |
Biochimica et Biophysica Acta (BBA) - General Subjects | 2002 |
Hepatocyte Nuclear Factor-1 Modulates Pancreatic -Cell Growth by Regulating the Expression of Insulin-Like Growth Factor-1 in INS-1 Cells
Q Yang, K Yamagata, K Fukui, Y Cao, T Nammo, H Iwahashi, H Wang, I Matsumura, T Hanafusa, R Bucala, CB Wollheim, J Miyagawa, Y Matsuzawa |
Diabetes | 2002 |
A Genetic Switch in Pancreatic -Cells: Implications for Differentiation and Haploinsufficiency
J Ferrer |
Diabetes | 2002 |
Experimental Models of Transcription Factor-Associated Maturity-Onset Diabetes of the Young
H Wang, K Hagenfeldt-Johansson, LA Otten, BR Gauthier, PL Herrera, CB Wollheim |
Diabetes | 2002 |
Decreased Glibenclamide Uptake in Hepatocytes of Hepatocyte Nuclear Factor-1 -Deficient Mice: A Mechanism for Hypersensitivity to Sulfonylurea Therapy in Patients With Maturity-Onset Diabetes of the Young, Type 3 (MODY3)
P Boileau, C Wolfrum, DQ Shih, TA Yang, AW Wolkoff, M Stoffel |
Diabetes | 2002 |
The prevalence of the HNF-1alpha G319S mutation in Canadian aboriginal youth with type 2 diabetes
Elizabeth A C Sellers, Barbara Triggs-Raine, Cheryl Rockman-Greenberg, Heather J Dean |
Diabetes care | 2002 |
Diabetes Mellitus do Tipo MODY
CS Oliveira, GK Furuzawa, AF Reis |
Arquivos brasileiros de endocrinologia e metabologia | 2002 |
Hyperphenylalaninemia and Impaired Glucose Tolerance in Mice Lacking the Bifunctional DCoH Gene
JH Bayle, F Randazzo, G Johnen, S Kaufman, A Nagy, J Rossant, GR Crabtree |
The Journal of biological chemistry | 2002 |
Bile system morphogenesis defects and liver dysfunction upon targeted deletion of HNF1β
C Coffinier, L Gresh, L Fiette, F Tronche, G Schütz, C Babinet, M Pontoglio, M Yaniv, J Barra |
Development (Cambridge, England) | 2002 |
Calpains play a role in insulin secretion and action
SK Sreenan, YP Zhou, K Otani, PA Hansen, KP Currie, CY Pan, JP Lee, DM Ostrega, W Pugh, Y Horikawa, NJ Cox, CL Hanis, CF Burant, AP Fox, GI Bell, KS Polonsky |
Diabetes | 2001 |
β-Cell-Targeted Expression of a Dominant-Negative Hepatocyte Nuclear Factor-1α Induces a Maturity-Onset Diabetes of the Young (MODY)3-Like Phenotype in Transgenic Mice
KA Hagenfeldt-Johansson, PL Herrera, H Wang, A Gjinovci, H Ishihara, CB Wollheim |
Endocrinology | 2001 |
Diabetes mellitus and genetically programmed defects in β-cell function
GI Bell, KS Polonsky |
Nature | 2001 |
Glucose homeostasis: lessons from knockout mice
J Nakae, Y Kido, T Kitamura, D Accili |
Current Opinion in Endocrinology & Diabetes | 2001 |
Genomic expression analysis implicates Wnt signaling pathway and extracellular matrix alterations in hepatic specification and differentiation of murine hepatic stem cells
CP Plescia, CE Rogler, LE Rogler |
Differentiation | 2001 |
A transcription factor regulatory circuit in differentiated pancreatic cells
SF Boj, M Parrizas, MA Maestro, J Ferrer |
Proceedings of the National Academy of Sciences | 2001 |
Activity of hepatocyte nuclear factor 1alpha and hepatocyte nuclear factor 1beta isoforms is differently affected by the inhibition of protein phosphatases 1/2A
V Carrière, M Lacasa, M Rousset |
Biochemical Journal | 2001 |
Molecular Mechanisms and Clinical Pathophysiology of Maturity-Onset Diabetes of the Young
SS Fajans, GI Bell, KS Polonsky |
New England Journal of Medicine | 2001 |
Regulation of pancreatic beta-cell growth and survival by the serine/threonine protein kinase Akt1/PKBalpha
RL Tuttle, NS Gill, W Pugh, JP Lee, B Koeberlein, EE Furth, KS Polonsky, A Naji, MJ Birnbaum |
Nature Medicine | 2001 |
Regulation of the Pancreatic Pro-Endocrine Gene Neurogenin3
JC Lee, SB Smith, H Watada, J Lin, D Scheel, J Wang, RG Mirmira, MS German |
Diabetes | 2001 |
Hepatocyte Nuclear Factor 1α Controls the Expression of Terminal Complement Genes
M Pontoglio, M Pausa, A Doyen, B Viollet, M Yaniv, F Tedesco |
Journal of Experimental Medicine | 2001 |
Dominant-negative Suppression of HNF-1α Results in Mitochondrial Dysfunction, INS-1 Cell Apoptosis, and Increased Sensitivity to Ceramide-, but Not to High Glucose-induced Cell Death
H Wobser, H Düßmann, D Kögel, H Wang, C Reimertz, CB Wollheim, MM Byrne, JH Prehn |
The Journal of biological chemistry | 2001 |
Characterization of the Human OATP-C (SLC21A6) Gene Promoter and Regulation of Liver-specific OATP Genes by Hepatocyte Nuclear Factor 1α
D Jung, B Hagenbuch, L Gresh, M Pontoglio, PJ Meier, GA Kullak-Ublick |
The Journal of biological chemistry | 2001 |
The Role of Hepatic Nuclear Factor 1α and PDX-1 in Transcriptional Regulation of the pdx-1 Gene
K Gerrish, MA Cissell, R Stein |
The Journal of biological chemistry | 2001 |
Mitochondrial function in normal and diabetic β-cells
P Maechler, CB Wollheim |
Nature | 2001 |
Genetics of Diabetes Mellitus
WL Lowe |
2001 | |
Molecular Basis of Pancreas Development and Function
JF Habener, MA Hussain |
2001 | |
Hepatic Nuclear Factor 1-α Directs Nucleosomal Hyperacetylation to Its Tissue-Specific Transcriptional Targets
M Párrizas, MA Maestro, SF Boj, A Paniagua, R Casamitjana, R Gomis, F Rivera, J Ferrer |
Molecular and cellular biology | 2001 |
Embryonic but Not Postnatal Reexpression of Hepatocyte Nuclear Factor 1α (HNF1α) Can Reactivate the Silent Phenylalanine Hydroxylase Gene in HNF1α-Deficient Hepatocytes
B Viollet, M Yaniv, M Pontoglio |
Molecular and cellular biology | 2001 |
Maturity-Onset Diabetes of the Young Type 1 (MODY1)-Associated Mutations R154X and E276Q in Hepatocyte Nuclear Factor 4α (HNF4α) Gene Impair Recruitment of p300, a Key Transcriptional Coactivator
J Eeckhoute, P Formstecher, B Laine |
Molecular Endocrinology | 2001 |
HNF1alpha controls renal glucose reabsorption in mouse and man
M Pontoglio, D Prié, C Cheret, A Doyen, C Leroy, P Froguel, G Velho, M Yaniv, G Friedlander |
EMBO reports | 2000 |
Recent advances in the genetics of maturity-onset diabetes of the young and other forms of autosomal dominant diabetes
A Doria, N Plengvidhya |
Current Opinion in Endocrinology & Diabetes | 2000 |
Molecular targets of a human HNF1 alpha mutation responsible for pancreatic beta-cell dysfunction
H Wang, PA Antinozzi, KA Hagenfeldt, P Maechler, CB Wollheim |
The EMBO Journal | 2000 |
The mutated human gene encoding hepatocyte nuclear factor 1beta inhibits kidney formation in developing Xenopus embryos
W Wild, EP von Strandmann, A Nastos, S Senkel, A Lingott-Frieg, M Bulman, C Bingham, S Ellard, AT Hattersley, GU Ryffel |
Proceedings of the National Academy of Sciences | 2000 |
Hepatocyte nuclear factor 1, a transcription factor at the crossroads of glucose homeostasis
M Pontoglio |
Journal of the American Society of Nephrology : JASN | 2000 |
Targeted Overactivity of β Cell KATP Channels Induces Profound Neonatal Diabetes
JC Koster, BA Marshall, N Ensor, JA Corbett, CG Nichols |
Cell | 2000 |
A Molecular Link between the Common Phenotypes of Type 1 Glycogen Storage Disease and HNF1α-null Mice
H Hiraiwa, CJ Pan, B Lin, TE Akiyama, FJ Gonzalez, JY Chou |
The Journal of biological chemistry | 2000 |
Transcriptional Activation by Hepatocyte Nuclear Factor-1 Requires Synergism between Multiple Coactivator Proteins
E Soutoglou, G Papafotiou, N Katrakili, I Talianidis |
The Journal of biological chemistry | 2000 |
Augmentation of basal insulin release from rat islets by preexposure to a high concentration of glucose
S Fujimoto, Y Tsuura, H Ishida, K Tsuji, E Mukai, M Kajikawa, Y Hamamoto, T Takeda, Y Yamada, Y Seino |
American journal of physiology. Endocrinology and metabolism | 2000 |
Overexpression of Bcl-x L in β-cells prevents cell death but impairs mitochondrial signal for insulin secretion
YP Zhou, JC Pena, MW Roe, A Mittal, M Levisetti, AC Baldwin, W Pugh, D Ostrega, N Ahmed, VP Bindokas, LH Philipson, D Hanahan, CB Thompson, KS Polonsky |
American journal of physiology. Endocrinology and metabolism | 2000 |
The Private Hepatocyte Nuclear Factor-1α G319S Variant Is Associated With Plasma Lipoprotein Variation in Canadian Oji-Cree
RA Hegele, H Cao, SB Harris, AJ Hanley, B Zinman, PW Connelly |
Arteriosclerosis, thrombosis, and vascular biology | 2000 |
Regulation of the Liver Fatty Acid-binding Protein Gene by Hepatocyte Nuclear Factor 1α (HNF1α)
TE Akiyama, JM Ward, FJ Gonzalez |
The Journal of biological chemistry | 2000 |
Molecular and physiological basis for maturity onset diabetes of youth
L Groop, M Lehto |
Current Opinion in Endocrinology & Diabetes | 1999 |
Loss of HNF1? function in human renal cell carcinoma: Frequent mutations in theVHL gene but not theHNF1? gene
I Lemm, A Lingott, EP Strandmann, C Zoidl, MP Bulman, AT Hattersley, WA Schulz, T Ebert, GU Ryffel |
Molecular Carcinogenesis | 1999 |
Pancreas development and diabetes
L St-Onge, R Wehr, P Grusst |
Current Opinion in Genetics & Development | 1999 |
Molecular and physiological basis for maturity onset diabetes of youth:
L Groop, M Lehto |
Current Opinion in Endocrinology & Diabetes | 1999 |
Molecular Genetics of Maturity-onset Diabetes of the Young
P Froguel, G Velho |
Trends in Endocrinology & Metabolism | 1999 |
Essential role for the homeoprotein vHNF1/HNF1beta in visceral endoderm differentiation
C Coffinier, D Thépot, C Babinet, M Yaniv, J Barra |
Development (Cambridge, England) | 1999 |
Human Insulin Gene Is a Target Gene of Hepatocyte Nuclear Factor-1α (HNF-1α) and HNF-1β
K Okita, Q Yang, K Yamagata, KA Hangenfeldt, J Miyagawa, Y Kajimoto, H Nakajima, M Namba, CB Wollheim, T Hanafusa, Y Matsuzawa |
Biochemical and Biophysical Research Communications | 1999 |
Structure/Function Studies of Hepatocyte Nuclear Factor-1α, a Diabetes-Associated Transcription Factor
Q Yang, K Yamagata, K Yamamoto, J Miyagawa, J Takeda, N Iwasaki, H Iwahashi, I Yoshiuchi, M Namba, J Miyazaki, T Hanafusa, Y Matsuzawa |
Biochemical and Biophysical Research Communications | 1999 |
Anatomy of a Homeoprotein Revealed by the Analysis of Human MODY3 Mutations
M Vaxillaire, A Abderrahmani, P Boutin, B Bailleul, P Froguel, M Yaniv, M Pontoglio |
The Journal of biological chemistry | 1999 |
The Hepatic Nuclear Factor-1α G319S Variant Is Associated with Early-Onset Type 2 Diabetes in Canadian Oji-Cree1
RA Hegele, H Cao, SB Harris, AJ Hanley, B Zinman |
The Journal of clinical endocrinology and metabolism | 1999 |
Medical implications of understanding complex disease traits
J Bell |
Current Opinion in Biotechnology | 1998 |
Dominant-negative suppression of HNF-1alpha function results in defective insulin gene transcription and impaired metabolism-secretion coupling in a pancreatic beta-cell line
H Wang, P Maechler, KA Hagenfeldt, CB Wollheim |
The EMBO Journal | 1998 |
Defective Pancreatic β-Cell Glycolytic Signaling in Hepatocyte Nuclear Factor-1α-deficient Mice
ID Dukes, S Sreenan, MW Roe, M Levisetti, YP Zhou, D Ostrega, GI Bell, M Pontoglio, M Yaniv, L Philipson, KS Polonsky |
The Journal of biological chemistry | 1998 |
Advances in Pharmacology
B Drenger, Y Ginosar, Y Gozal |
Advances in Pharmacology | 1994 |
Endocrine Pathology
RV Lloyd |
Endocrine Pathology | 1990 |